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Article

A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.

Ophthalmic surgery, lasers & imaging retina - 1 Dec 2024

Faruque Promie R, Hou Baichun, Oh Jin Kyun, Tsang Stephen H

Abstract excerpt

Mutations in CEP78 lead to abnormal production of cilia and have previously been identified to cause cone-rod dystrophy (CRD) with progressive sensorineural hearing loss. The authors describe a case of cone dystrophy (CD) with sensorineural hearing loss in a variant that had previously been reported to be of unknown significance and associated with CRD only. This report corroborates the pathogenicity of this...

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Share to Cell Cycle Proteins
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Share to Hearing Loss, Sensorineural

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39172222
DOI: 10.3928/23258160-20240717-01

Genes

CEP78

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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A Novel CEP78 Variant Presenting as Cone Dystrophy and Hearing Loss.PMID 39172222Read ↗

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Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.Semantic proximity Read ↗

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.Semantic proximity Read ↗

Finding and computational analyses of a novel mutation in CEP78 linked to cone-rod dystrophy and hearing loss.Semantic proximity Read ↗

A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.Semantic proximity Read ↗

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing LossSemantic proximity Read ↗

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.Semantic proximity Read ↗

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.Semantic proximity Read ↗

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.Semantic proximity Read ↗

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